Variant report

Variant	rs6733410
Chromosome Location	chr2:11273757-11273758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr2:11272477-11274028	HepG2	liver:	n/a	n/a
2	SIN3A	chr2:11272699-11274080	H1-hESC	embryonic stem cell:	n/a	chr2:11273187-11273195
3	POLR2A	chr2:11273054-11273915	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:11273745-11273821	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr2:11272687-11274320	IMR90	lung:	n/a	chr2:11273196-11273211

No.	Distal block	Cell Line	Cell type
1	chr2:11272147..11274930-chr2:11671339..11675156,3	MCF-7	breast:
2	chr2:11271098..11275692-chr2:11293512..11297101,4	MCF-7	breast:
3	chr2:11273055..11275301-chr2:11293268..11296881,3	MCF-7	breast:
4	chr2:11273067..11276077-chr2:11294167..11297061,3	K562	blood:
5	chr2:11269728..11273923-chr2:11678087..11684060,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145063	TF binding region
ENSG00000264010	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11903207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810295	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2102714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4297854	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4386295	1.00[CEU][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4446053	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4474856	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4474857	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4476323	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4635508	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56732337	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57447764	0.92[EUR][1000 genomes]
rs57604212	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57812764	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432175	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432176	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432180	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6706759	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708309	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713752	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717010	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717030	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717388	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726867	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753482	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756515	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760152	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175630	0.84[EUR][1000 genomes]
rs73175632	0.84[EUR][1000 genomes]
rs73175633	0.84[EUR][1000 genomes]
rs73189609	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7563857	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7573202	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579736	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7600174	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7600586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908276	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11269800-11274000	Enhancers	Fetal Brain Male	brain
2	chr2:11271400-11274200	Active TSS	Brain Anterior Caudate	brain
3	chr2:11272400-11274000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:11272600-11273800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:11272600-11273800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:11272600-11273800	Flanking Active TSS	Colonic Mucosa	Colon
7	chr2:11272800-11273800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:11272800-11273800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:11272800-11273800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:11272800-11273800	Active TSS	Colon Smooth Muscle	Colon
11	chr2:11272800-11273800	Active TSS	Placenta Amnion	Placenta Amnion
12	chr2:11272800-11273800	Active TSS	Rectal Smooth Muscle	rectum
13	chr2:11272800-11273800	Active TSS	Right Atrium	heart
14	chr2:11272800-11273800	Active TSS	NHEK	skin
15	chr2:11272800-11274000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:11272800-11274000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:11272800-11274000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr2:11272800-11274000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:11272800-11274000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr2:11272800-11274000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr2:11272800-11274000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr2:11272800-11274000	Active TSS	Brain Angular Gyrus	brain
23	chr2:11272800-11274000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr2:11272800-11274000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:11272800-11274000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr2:11272800-11274200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr2:11272800-11274200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr2:11272800-11274800	Active TSS	Fetal Kidney	kidney
29	chr2:11273000-11273800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr2:11273000-11273800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
31	chr2:11273000-11273800	Active TSS	Aorta	Aorta
32	chr2:11273000-11273800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr2:11273000-11273800	Active TSS	Esophagus	oesophagus
34	chr2:11273200-11273800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:11273200-11273800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:11273200-11273800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:11273200-11273800	Flanking Active TSS	Liver	Liver
38	chr2:11273200-11273800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:11273200-11273800	Flanking Active TSS	Right Ventricle	heart
40	chr2:11273200-11273800	Flanking Active TSS	NH-A	brain
41	chr2:11273200-11274000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:11273200-11274000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:11273200-11274000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:11273200-11274000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:11273200-11274000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:11273200-11274000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:11273200-11274000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr2:11273200-11274000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:11273200-11274000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr2:11273200-11274000	Flanking Active TSS	HSMM	muscle

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